A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267002



Internal ID22276390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63424453..63454417hg38UCSC Ensembl
Outerchr20:62055806..62085770hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383273
hg193273
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238830
Supporting Variants
SamplesNA19239
Known GenesKCNQ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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